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Article

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.

Journal of inherited metabolic disease - 1 Nov 2023

Mütze Ulrike, Henze Lucy, Schröter Julian, Gleich Florian, Lindner Martin, Grünert Sarah C, Spiekerkoetter Ute, Santer René, Thimm Eva, Ensenauer Regina, Weigel Johannes, Beblo Skadi, Arélin Maria, Hennermann Julia B, Marquardt Iris, Freisinger Peter, Krämer Johannes, Dieckmann Andrea, Weinhold Natalie, Schiergens Katharina A, Maier Esther M, Hoffmann Georg F, Garbade Sven F, Kölker Stefan

Abstract excerpt

Newborn screening (NBS) allows early identification of individuals with rare disease, such as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively screened individuals with IVA is needed to guide therapeutic decision, prevent life-threatening neonatal disease manifestation in classic IVA and over-medicalization in attenuated IVA that may remain asymptomatic. We analyzed 84...

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PMID: 37429829
DOI: 10.1002/jimd.12653

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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